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Trends Neurosci. 2014 Jul;37(7):388-98. doi: 10.1016/j.tins.2014.04.003. Epub 2014 May 4.

Progranulin in neurodegenerative disease.

Author information

1
Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Children's and Women's Hospital, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4.
2
Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, and Children's and Women's Hospital, 980 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4; Division of Neurology, Department of Medicine, University of British Columbia Hospital, S 192, 2211 Wesbrook Mall, Vancouver, BC, Canada V6T 2B5; Brain Research Centre, University of British Columbia, Vancouver, BC V6T 1Z3, Canada. Electronic address: bleavitt@cmmt.ubc.ca.

Abstract

Loss-of-function mutations in the progranulin gene are a common cause of familial frontotemporal dementia (FTD). The purpose of this review is to summarize the role of progranulin in health and disease, because the field is now poised to begin examining therapeutics that alter endogenous progranulin levels. We first review the clinical and neuropathological phenotype of FTD patients carrying mutations in the progranulin gene, which suggests that progranulin-mediated neurodegeneration is multifactorial and influenced by other genetic and/or environmental factors. We then examine evidence for the role of progranulin in the brain with a focus on mouse model systems. A better understanding of the complexity of progranulin biology in the brain will help guide the development of progranulin-modulating therapies for neurodegenerative disease.

PMID:
24800652
DOI:
10.1016/j.tins.2014.04.003
[Indexed for MEDLINE]

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